Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations


Saltik-Temizel İ. N. , Coskun T., Yuce A., Kocak N.

TURKISH JOURNAL OF PEDIATRICS, vol.47, no.2, pp.167-169, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 2
  • Publication Date: 2005
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.167-169

Abstract

Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.